Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: SKI
Marfanoid CSS syndrome. Mutational hostpot S31-P35. Haploinsufficiency gives a different phenotype? (1p36del syndrome) ; Review on behalf of Tracy Lester/Andrew WilkieCreated: 5 Mar 2019, 11:33 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Shprintzen-Goldberg syndrome - 182212
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: SKI; Suggested initial gene rating: greenCreated: 5 Mar 2019, 11:21 a.m.
Missense mutations and in-frame deletions localised to R-SMAD and DHD domainsCreated: 14 Sep 2015, 12:25 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Shprintzen-Goldberg syndrome
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Added phenotypes Shprintzen-Goldberg syndrome 182212 for gene: SKI
Source NHS GMS was added to SKI. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Phenotypes for SKI were set to 182212
Publications for SKI were set to 23023332; 23103230; 24736733
Mode of pathogenicity for SKI was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Mode of inheritance for SKI was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
SKI was added to Craniosynostosis syndromespanel. Sources: Expert list